Canonical Allele Identifier: CA439273763
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 1132962
ClinVar RCV Id: RCV001467381
dbSNP Id: rs2109370000
gnomAD v4: 4-52028043-C-T
MyVariant Identifiers: chr4:g.52894209C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028043C>T , CM000666.2:g.52028043C>T GRCh38
NC_000004.11:g.52894209C>T , CM000666.1:g.52894209C>T GRCh37
NC_000004.10:g.52588966C>T NCBI36
NG_008891.1:g.15277G>A , LRG_204:g.15277G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.678G>A MANE Select ENSP00000370839.6:p.Val226=
ENST00000381431.9:c.678G>A ENSP00000370839.5:p.Val226=
NM_000232.4:c.678G>A , LRG_204t1:c.678G>A NP_000223.1:p.Val226=
XM_006714049.2:c.381G>A XP_006714112.1:p.Val127=
XM_011534403.1:c.468G>A XP_011532705.1:p.Val156=
XM_011534404.1:c.381G>A XP_011532706.1:p.Val127=
NM_000232.5:c.678G>A MANE Select NP_000223.1:p.Val226=
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